PRENATAL DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS

1996 ◽  
Vol 16 (1) ◽  
pp. 83-86 ◽  
Author(s):  
C. GED ◽  
F. MOREAU-GAUDRY ◽  
L. TAINE ◽  
I. HOMBRADOS ◽  
P. CALVAS ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Dna Mutation ◽  
Congenital Erythropoietic Porphyria ◽  
Metabolic Measurement ◽  
Dna Mutation Analysis

scholarly journals Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors

2020 ◽  
Vol 10 ◽  
Author(s):  
Carlos Jhovani Pérez-Amado ◽  
Hugo Tovar ◽  
Laura Gómez-Romero ◽  
Fredy Omar Beltrán-Anaya ◽  
Verónica Bautista-Piña ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mitochondrial Dna ◽  
Mutation Analysis ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

scholarly journals Digital PCR-based plasma cell-free DNA mutation analysis for early-stage pancreatic tumor diagnosis and surveillance

2020 ◽  
Vol 55 (12) ◽  
pp. 1183-1193
Author(s):  
Tetsuhiro Okada ◽  
Yusuke Mizukami ◽  
Yusuke Ono ◽  
Hiroki Sato ◽  
Akihiro Hayashi ◽  
...  
Keyword(s):  
Plasma Cell ◽  
Mutation Analysis ◽  
Pancreatic Tumor ◽  
Early Stage ◽  
Digital Pcr ◽  
Tumor Diagnosis ◽  
Cell Free Dna ◽  
Dna Mutation ◽  
Free Dna ◽  
Dna Mutation Analysis

scholarly journals Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

2019 ◽  
Vol 42 (5) ◽  
pp. 909-917 ◽  
Author(s):  
Matias Wagner ◽  
Riccardo Berutti ◽  
Bettina Lorenz‐Depiereux ◽  
Elisabeth Graf ◽  
Gertrud Eckstein ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Exome Sequencing ◽  
Mutation Analysis ◽  
Mitochondrial Disease ◽  
Holistic Approach ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

Amplification-free SERS analysis of DNA mutation in cancer cells with single-base sensitivity

Nanoscale ◽  
2019 ◽  
Vol 11 (16) ◽  
pp. 7781-7789 ◽  
Author(s):  
Lei Wu ◽  
Alejandro Garrido-Maestu ◽  
Joana R. L. Guerreiro ◽  
Sandra Carvalho ◽  
Sara Abalde-Cela ◽  
...  
Keyword(s):  
Cancer Cells ◽  
Mutation Analysis ◽  
Single Base ◽  
Dna Mutation ◽  
Cellular Dna ◽  
Dna Mutation Analysis

An amplification-free SERS chip for cellular DNA mutation analysis has been developed.

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